Publications by authors named "Lou A Metherell"

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Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Junhua Zhou, Elena A B Azizan, Claudia P Cabrera, Fabio L Fernandes-Rosa, Sheerazed Boulkroun, Lou A Metherell

Nat Genet· September 2021

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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Ashwini Maudhoo, Avinaash Maharaj, Federica Buonocore, Gabriel Angel Martos-Moreno, Jesús Argente, Lou A Metherell

Endocrinol Diabetes Metab Case Rep· September 2021

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Loss of Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts.
Jack L Williams, Charlotte L Hall, Eirini Meimaridou, Lou A Metherell

Int J Mol Sci· June 2021

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null C57BL/6N mice develop cardiomyopathy, whereas null C57BL/6J mice do not.
Jack L Williams, Anju Paudyal, Sherine Awad, James Nicholson, Dominika Grzesik, Lou A Metherell

Life Sci Alliance· April 2020

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Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
Sarah L Tsai, Jane Green, Lou A Metherell, Fiona Curtis, Bridget Fernandez

Horm Res Paediatr· October 2016

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Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
Vivian Hwa, Cecilia Camacho-Hübner, Brian M Little, Alessia David, Lou A Metherell

Horm Res· November 2007

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